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101 results

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A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.
Esposito S, Carecchio M, Tonduti D, Saletti V, Panteghini C, Chiapparini L, Zorzi G, Pantaleoni C, Garavaglia B, Krainc D, Lubbe SJ, Nardocci N, Mencacci NE. Esposito S, et al. Among authors: tonduti d. Mov Disord. 2017 Nov;32(11):1646-1647. doi: 10.1002/mds.27175. Epub 2017 Sep 26. Mov Disord. 2017. PMID: 28949041 No abstract available.
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.
Gavazzi F, Patel V, Charsar B, Glanzman A, Erler J, Sevagamoorthy A, McKenzie E, Kornafel T, Ballance E, Pierce SR, Teng M, Formanowski B, Woidill S, Shults J, Wassmer E, Tonduti D, Magrinelli F, Bernard G, Van Der Knaap M, Wolf N, Adang L, Vanderver A. Gavazzi F, et al. Among authors: tonduti d. J Child Neurol. 2023 Aug;38(8-9):498-504. doi: 10.1177/08830738231188159. Epub 2023 Jul 17. J Child Neurol. 2023. PMID: 37461315 Free PMC article.
Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.
Al Wardat S, Frassinelli L, Orecchini E, Rey F, Ciafrè SA, Galardi S, Garau J, Gagliardi S, Orcesi S, Tonduti D, Carelli S, Cereda C, Picardi E, Michienzi A. Al Wardat S, et al. Among authors: tonduti d. Genes Dis. 2023 Jul 13;11(3):101028. doi: 10.1016/j.gendis.2023.05.020. eCollection 2024 May. Genes Dis. 2023. PMID: 38292175 Free PMC article. No abstract available.
Role of epigenetics and alterations in RNA metabolism in leukodystrophies.
Rey F, Esposito L, Maghraby E, Mauri A, Berardo C, Bonaventura E, Tonduti D, Carelli S, Cereda C. Rey F, et al. Among authors: tonduti d. Wiley Interdiscip Rev RNA. 2024 May-Jun;15(3):e1854. doi: 10.1002/wrna.1854. Wiley Interdiscip Rev RNA. 2024. PMID: 38831585 Free article. Review.
101 results